Canonical Allele Identifier: PA2827714233
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374758
ClinVar RCV Id: RCV001900686
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340124.1:p.Ser340Arg
CA375311694
NM_001353195.2:c.1018A>C
CA375311709
NM_001353195.2:c.1020C>A
CA375311712
NM_001353195.2:c.1020C>G